Study by Biology Professor Discovers a New Gene in Kidney Disorder

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John Manak, Associate Professor of Biology
July 27, 2017

A new University of Iowa study spearheaded by Associate Professor of Biology and Pediatrics, Dr. John Manak, describes discovery of a novel gene associated with the devastating birth defect, renal agenesis, where kids are born with one kidney or none. The study, published in the journal Genetics, identified the gene, GREB1L, using a technique called whole exome sequencing whereby important regions of DNA in the genome obtained from affected individuals are isolated and sequenced. Once the gene was identified, Dr. Manak and colleagues then performed functional validation studies in two vertebrate model organisms to prove that the gene is indeed required for proper kidney development. 

Dr. Manak states, “The reason we are so excited about this study is two-fold. For one, it is the first gene of a very important signaling pathway (called the retinoic acid signaling pathway) that has been identified as being associated with this birth defect in humans. And two, this discovery can now be used in the clinic to determine whether families with a history of agenesis harbor mutations in GREB1L. If so, it can then be determined whether the GREB1L mutation has been transmitted to a developing fetus. Essentially, it’s a way to determine early on whether the child will likely be born with the disorder, or be born healthy. Imagine the relief the parents would feel in the latter case. In fact, based on our work, we already know that additional families have been identified that harbor mutations in this gene, and they can now be better informed about the disorder affecting them.”

To read the full paper published in Genetics, please click here.       

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